Mutagenetix > Incidental Mutations

Incidental Mutation 'R5680:G3bp2'

442972

Institutional Source

Beutler Lab

Gene Symbol

G3bp2

Ensembl Gene

ENSMUSG00000029405

Gene Name

GTPase activating protein (SH3 domain) binding protein 2

Synonyms

G3BP, E430034L04Rik, G3BP2

MMRRC Submission

043177-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92052146-92083719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92068360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 106 (R106G)

Ref Sequence

ENSEMBL: ENSMUSP00000144456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113127] [ENSMUST00000164378] [ENSMUST00000167918] [ENSMUST00000169094] [ENSMUST00000201820] [ENSMUST00000202123] [ENSMUST00000202258]

AlphaFold

P97379

Predicted Effect

probably damaging
Transcript: ENSMUST00000113127
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108752
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	8.4e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	254	279	N/A	INTRINSIC
RRM	299	372	6.07e-14	SMART
low complexity region	376	427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164378
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128353
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.5e-36	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167918
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132469
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	8.4e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	254	279	N/A	INTRINSIC
RRM	299	372	6.07e-14	SMART
low complexity region	376	427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169094
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128244
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	1.1e-34	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201820
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144404
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	117	9.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201824

Predicted Effect

probably damaging
Transcript: ENSMUST00000202123
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143804
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202125

Predicted Effect

probably damaging
Transcript: ENSMUST00000202258
AA Change: R106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144456
Gene: ENSMUSG00000029405
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:NTF2	11	133	5.5e-36	PFAM
low complexity region	140	159	N/A	INTRINSIC
low complexity region	186	211	N/A	INTRINSIC
low complexity region	214	224	N/A	INTRINSIC
low complexity region	287	312	N/A	INTRINSIC
RRM	332	405	6.07e-14	SMART
low complexity region	409	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202352

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,053	R652W	probably damaging	Het
Abca6	A	G	11: 110,236,645	F362S	possibly damaging	Het
Adcy1	G	A	11: 7,109,020	V309M	probably damaging	Het
Agap2	A	G	10: 127,088,011	K752E	unknown	Het
Ahdc1	T	A	4: 133,065,596	F1383I	probably benign	Het
Ano5	G	A	7: 51,583,814	R658H	possibly damaging	Het
Atn1	A	T	6: 124,747,815	S152T	possibly damaging	Het
Bcl11a	G	A	11: 24,164,264	V536M	possibly damaging	Het
Cdc20	T	C	4: 118,433,067	T466A	probably damaging	Het
Cecr2	C	G	6: 120,761,426	T1010R	probably benign	Het
Cfap54	A	T	10: 92,979,017	L1318*	probably null	Het
Colec11	A	G	12: 28,594,731	S249P	probably damaging	Het
Dnah6	A	G	6: 73,149,525	V1273A	probably damaging	Het
Fam208a	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,429,123		probably benign	Het
Ggt7	A	T	2: 155,506,433	C100S	probably damaging	Het
Gm765	T	A	6: 98,248,226	Q32L	probably damaging	Het
Grik4	A	T	9: 42,629,119	M255K	probably benign	Het
Kcnj11	A	T	7: 46,098,808	S364T	probably benign	Het
Lnpep	A	T	17: 17,579,182	Y70*	probably null	Het
Mark1	T	C	1: 184,944,816	H79R	probably damaging	Het
Myo9b	T	G	8: 71,290,372	S26A	probably benign	Het
Pa2g4	G	T	10: 128,559,457	N306K	probably benign	Het
Pik3c3	T	A	18: 30,277,113	Y133*	probably null	Het
Prpf6	G	T	2: 181,649,140	A675S	probably damaging	Het
Psca	A	G	15: 74,716,099	D44G	probably benign	Het
Sag	T	A	1: 87,821,337	F153I	possibly damaging	Het
Scn10a	A	G	9: 119,624,136	L1231P	probably damaging	Het
Sirpa	T	C	2: 129,616,252	S157P	probably benign	Het
Slc27a2	A	T	2: 126,561,610	R184S	probably benign	Het
Tagln2	T	C	1: 172,505,912	F111S	probably damaging	Het
Tbc1d1	A	G	5: 64,324,544	D696G	possibly damaging	Het
Tert	T	A	13: 73,642,351		probably null	Het
Togaram2	G	A	17: 71,689,209	R68K	probably benign	Het
Trim40	A	T	17: 36,888,982	I68N	probably damaging	Het
Trpa1	T	C	1: 14,875,854	M1018V	probably benign	Het
Unc13c	A	T	9: 73,932,602	N322K	probably damaging	Het
Vmn2r75	T	A	7: 86,171,571	T52S	probably benign	Het
Vmn2r90	T	G	17: 17,726,772	V437G	possibly damaging	Het
Vps16	C	A	2: 130,440,324	H389N	possibly damaging	Het

Other mutations in G3bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:G3bp2	APN	5	92065848	missense	probably damaging	0.98
IGL02124:G3bp2	APN	5	92073247	missense	possibly damaging	0.92
IGL02519:G3bp2	APN	5	92066524	missense	possibly damaging	0.90
IGL03146:G3bp2	APN	5	92066540	missense	probably damaging	1.00
IGL03183:G3bp2	APN	5	92055046	missense	possibly damaging	0.82
IGL03195:G3bp2	APN	5	92068508	splice site	probably benign
IGL03385:G3bp2	APN	5	92068395	missense	probably damaging	1.00
R0558:G3bp2	UTSW	5	92073197	missense	probably damaging	1.00
R1067:G3bp2	UTSW	5	92063328	splice site	probably benign
R1621:G3bp2	UTSW	5	92056278	missense	probably damaging	1.00
R2294:G3bp2	UTSW	5	92058028	missense	probably damaging	1.00
R3698:G3bp2	UTSW	5	92056280	missense	possibly damaging	0.91
R4159:G3bp2	UTSW	5	92064401	missense	probably benign	0.00
R4195:G3bp2	UTSW	5	92055416	missense	probably damaging	0.99
R4754:G3bp2	UTSW	5	92054909	missense	possibly damaging	0.85
R5518:G3bp2	UTSW	5	92068488	missense	probably benign	0.00
R5937:G3bp2	UTSW	5	92055397	missense	probably damaging	1.00
R8769:G3bp2	UTSW	5	92083497	intron	probably benign
R8945:G3bp2	UTSW	5	92068422	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTCAGAGATACCAGGTATGC -3'
(R):5'- TGGGTAGTTAATGTGGTAGCACAAG -3'

Sequencing Primer
(F):5'- TCAGAGATACCAGGTATGCAAATAG -3'
(R):5'- GCACAAGAAGTTTATTTTCTTCACCC -3'

Posted On

2016-11-09